Objective:To explore the genetic etiology for a child presenting with motor retardation, language delay, intellectual disability, and dysmorphic features.Methods:A child presented at Linyi People′s Hospital in June 2022 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples were obtained from the child and her parents. Following extraction of genomic DNA, whole-exome sequencing (WES) was carried out. Candidate variant was validated by Sanger sequencing. Amniotic fluid samples were obtained from the mother′s subsequent pregnancies for prenatal diagnosis. This study has been reviewed and approved by the Medical Ethics Committee of Linyi People′s Hospital (Ethics No.: 202402-H-034).Results:The proband was a 2-year-old girl showing developmental delays in motor, language, and intellectual domains, strabismus, hypertelorism, hearing impairment, obesity, and brachymesophalangy of the fifth finger. Magnetic resonance imaging revealed abnormalities of the white matter. Chromosomal microarray analysis (CMA) identified a 15q26.3 duplication (chr15: 101562020_102060896×3) inherited from her mother. WES has uncovered a heterozygous c. 1931A>G (p.Tyr644Cys) variant in the FBXO11 gene. Sanger sequencing confirmed the variant to be de novo in origin. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic. Prenatal diagnosis revealed that the fetuses from the mother′s second and third pregnancies did not harbor the same variant. Conclusion:The c. 1931A>G (p.Tyr644Cys) variant of the FBXO11 gene probably underlay the abnormal phenotype in the child. Based on its genotype and phenotype, the proband was diagnosed with Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.

In the context of an aging society,the number of elderly cancer patients is constantly increasing,and geriatric oncology has garnered significant attention in recent years.Given the heterogeneity in the health status of older patients,it has become increasingly important to provide individualized diagnosis,treatment,follow-up,and care.Thus,it must be emphasized the Comprehensive Geriatric Assessment(CGA)for elderly patients,which encompasses their physical function,nutritional status,cognitive function,emotional state,comorbidities,polypharmacy,social situation,and treatment preferences.This article provides consensus recommendations on CGA tools for elderly patients prior to anticancer treatment,offering valuable references and insights for clinical practice in China.

OBJECTIVE: To explore the genetic etiology for a child presenting with motor retardation, language delay, intellectual disability, and dysmorphic features. METHODS: A child presented at Linyi People's Hospital in June 2022 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples were obtained from the child and her parents. Following extraction of genomic DNA, whole-exome sequencing (WES) was carried out. Candidate variant was validated by Sanger sequencing. Amniotic fluid samples were obtained from the mother's subsequent pregnancies for prenatal diagnosis. This study has been reviewed and approved by the Medical Ethics Committee of Linyi People's Hospital (Ethics No.: 2019-134). RESULTS: The proband was a 2-year-old girl showing developmental delays in motor, language, and intellectual domains, strabismus, hypertelorism, hearing impairment, obesity, and brachymesophalangy of the fifth finger. Magnetic resonance imaging revealed abnormalities of the white matter. Chromosomal microarray analysis (CMA) identified a 15q26.3 duplication (chr15:101562020_102060896 × 3) inherited from her mother. WES has uncovered a heterozygous c.1931A>G (p.Tyr644Cys) variant in the FBXO11 gene. Sanger sequencing confirmed the variant to be de novo in origin. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic. Prenatal diagnosis revealed that the fetuses from the mother's second and third pregnancies did not harbor the same variant. CONCLUSION The c.1931A>G (p.Tyr644Cys) variant of the FBXO11 gene probably underlay the abnormal phenotype in the child. Based on its genotype and phenotype, the proband was diagnosed with Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.
Humans ; Female ; Intellectual Disability/genetics* ; Child, Preschool ; F-Box Proteins/genetics* ; Protein-Arginine N-Methyltransferases/genetics* ; Exome Sequencing

[Purpose]To analyze the trends of incidence and age at onset of bone malignant tumors in cancer registration areas of Jiangsu Province from 2009 to 2019.[Methods]Incidence data of bone malignant tumors from 2009 to 2019 were collected from 16 consecutive and quality-con-trolled cancer registries in Jiangsu Province.The incidence rates,average age at onset,and inci-dence composition of bone malignant tumors were calculated.A birth cohort model was constructed to analyze the changes in the incidence of bone malignant tumors in the population born from 1929 to 2019.Joinpoint regression models were used to analyze the average annual percentage change(AAPC)in the incidence rates and the incidence composition of bone malignant tumors for each year in those aged 60 years old and above.A general linear regression model was used to ana-lyze the trend of the average age of onset.[Results]The crude incidence rate of bone malignant tumors in women in Jiangsu cancer registration areas decreased from 2009 to 2019,with an AAPC of-2.62％(P=0.025).After adjusting the population composition,except for urban areas,the incidence of bone malignant tumors in the whole province,men,women and rural areas all decreased significantly,with AAPC of-3.15％,-2.49％,-4.31％and-2.23％,respectively.The average age at onset of bone malignant tumors in the whole province,men and urban areas de-creased significantly yearly,with an average annual decrease of 0.365,0.504 and 0.469 years old,respectively.In the same period,the incidence of malignant bone tumors in the whole province,men,women and urban areas of age groups of 50～59,60～69 and 70～79 years old showed a decreasing trend,the AAPC ranged from-9.06％to-4.14％(all P＜0.05),and the inci-dence decreased gradually with the year of birth.The incidence of malignant bone tumors in men＜30 years old increased yearly with an AAPC of 4.30％(P＜0.05).Compared with 2009,the com-position of incidence in men aged 15～39 years old and in urban population increased in 2019,while the incidence of bone malignant tumors in the age group of 60～79 years old in the province generally decreased.After age structure adjustment,the incidence of bone malignant tumors in people over 60 years old in urban areas decreased with an AAPC of-1.42％(P＜0.05).[Conclu-sion]The incidence of bone malignant tumors in Jiangsu Province is decreasing and the age at on-set is moving forward,indicating that the prevention and control measures of bone malignant tu-mors should be adjusted accordingly.

[Purpose]To analyze the trends of incidence and age at onset of bone malignant tumors in cancer registration areas of Jiangsu Province from 2009 to 2019.[Methods]Incidence data of bone malignant tumors from 2009 to 2019 were collected from 16 consecutive and quality-con-trolled cancer registries in Jiangsu Province.The incidence rates,average age at onset,and inci-dence composition of bone malignant tumors were calculated.A birth cohort model was constructed to analyze the changes in the incidence of bone malignant tumors in the population born from 1929 to 2019.Joinpoint regression models were used to analyze the average annual percentage change(AAPC)in the incidence rates and the incidence composition of bone malignant tumors for each year in those aged 60 years old and above.A general linear regression model was used to ana-lyze the trend of the average age of onset.[Results]The crude incidence rate of bone malignant tumors in women in Jiangsu cancer registration areas decreased from 2009 to 2019,with an AAPC of-2.62％(P=0.025).After adjusting the population composition,except for urban areas,the incidence of bone malignant tumors in the whole province,men,women and rural areas all decreased significantly,with AAPC of-3.15％,-2.49％,-4.31％and-2.23％,respectively.The average age at onset of bone malignant tumors in the whole province,men and urban areas de-creased significantly yearly,with an average annual decrease of 0.365,0.504 and 0.469 years old,respectively.In the same period,the incidence of malignant bone tumors in the whole province,men,women and urban areas of age groups of 50～59,60～69 and 70～79 years old showed a decreasing trend,the AAPC ranged from-9.06％to-4.14％(all P＜0.05),and the inci-dence decreased gradually with the year of birth.The incidence of malignant bone tumors in men＜30 years old increased yearly with an AAPC of 4.30％(P＜0.05).Compared with 2009,the com-position of incidence in men aged 15～39 years old and in urban population increased in 2019,while the incidence of bone malignant tumors in the age group of 60～79 years old in the province generally decreased.After age structure adjustment,the incidence of bone malignant tumors in people over 60 years old in urban areas decreased with an AAPC of-1.42％(P＜0.05).[Conclu-sion]The incidence of bone malignant tumors in Jiangsu Province is decreasing and the age at on-set is moving forward,indicating that the prevention and control measures of bone malignant tu-mors should be adjusted accordingly.

Objective:To explore the genetic etiology for a child presenting with motor retardation, language delay, intellectual disability, and dysmorphic features.Methods:A child presented at Linyi People′s Hospital in June 2022 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples were obtained from the child and her parents. Following extraction of genomic DNA, whole-exome sequencing (WES) was carried out. Candidate variant was validated by Sanger sequencing. Amniotic fluid samples were obtained from the mother′s subsequent pregnancies for prenatal diagnosis. This study has been reviewed and approved by the Medical Ethics Committee of Linyi People′s Hospital (Ethics No.: 202402-H-034).Results:The proband was a 2-year-old girl showing developmental delays in motor, language, and intellectual domains, strabismus, hypertelorism, hearing impairment, obesity, and brachymesophalangy of the fifth finger. Magnetic resonance imaging revealed abnormalities of the white matter. Chromosomal microarray analysis (CMA) identified a 15q26.3 duplication (chr15: 101562020_102060896×3) inherited from her mother. WES has uncovered a heterozygous c. 1931A>G (p.Tyr644Cys) variant in the FBXO11 gene. Sanger sequencing confirmed the variant to be de novo in origin. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic. Prenatal diagnosis revealed that the fetuses from the mother′s second and third pregnancies did not harbor the same variant. Conclusion:The c. 1931A>G (p.Tyr644Cys) variant of the FBXO11 gene probably underlay the abnormal phenotype in the child. Based on its genotype and phenotype, the proband was diagnosed with Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.

Objective To observe the value of MRI combined with serum carbohydrate antigen 125(CA125)and human epididymis protein 4(HE4)for differential diagnosis of type Ⅰ and Ⅱ epithelial ovarian cancers(EOC).Methods Totally 87 EOC patients were retrospectively enrolled.According to pathology,35 cases of type Ⅰ EOC were taken as type Ⅰ group,while 52 cases of type Ⅱ EOC were taken as type Ⅱ group.Conventional MRI manifestations and apparent diffusion coefficient(ADC)value of lesions,as well as CA125 and HE4 were compared between groups,and their efficacy for differential diagnosis of type Ⅰ and Ⅱ EOC were analyzed.Results Significant differences of conventional MRI manifestations of lesions,including composition,mural nodules,peritoneal diffusion and lymph node metastasis,of ADC value of lesions,also of patients'CA125 and HE4 were found between groups(all P＜0.05).The area under the curve(AUC)of conventional MRI manifestations and ADC value of lesions,patients'CA125 and HE4 for distinguishing typeⅠ and type Ⅱ EOC was 0.694,0.730,0.670 and 0.708,respectively,while of the combination of the above four was 0.865,higher than that of each one alone(Z=3.008,2.138,3.005,2.746,all P＜0.05).Conclusion MRI combined with CA125 and HE4 was helpful for differential diagnosis of type Ⅰ and Ⅱ EOC.

The eutR gene deletion mutant of Salmonella enteritidis was successfully constructed by homologous recombination.Through the study of its biochemical characteristics,motility,resist-ance to stress in vitro and survival ability in RAW 264.7 cells,it was found that the biochemical characteristics and motility of the eutR gene deletion mutant of Salmonella enteritidis had no sig-nificant change compared with the wild type of Salmonella enteritidis.The ability of eutR gene de-letion strain of Salmonella enteritidis to resist acid,alkali and oxidation was significantly reduced,while the ability to resist heat was not significantly changed;the survival ability of eutR gene dele-tion strain in RAW 264.7 cells was significantly reduced compared with the wild type.In order to further analyze the effect of eutR gene on the expression of virulence factors of Salmonella enterit-idis,the relative expression levels of invH,ssav,ssrA,xthA,orf245,sodC,lrp,mrr1 and hflk virulence genes of the deletion strain and the wild strain were detected by SYBR Green PCR.It was found that the expression of the virulence factors mentioned above in the eutR gene deletion strain of Salmonella enteritidis was significantly down-regulated compared with that in the wild-type strain.The LD50 of the eutR gene-deleted strain of Salmonella enteritidis was determined by ani-mal experiments,and the results showed that the LD50 of the eutR gene-deleted strain was higher than that of the wild-type strain,indicating that the eutR gene could affect the virulence of Salmonella.This study clarified the effect of eutR gene on the survival ability,some biological characteristics and virulence of Salmonella enteritidis in macrophages,and provided a new gene knockout target for the development of attenuated Salmonella enteritidis genetic engineering vac-cine.

Objective:To investigate the status of cognitive function in patients with acute cerebral infarction after intravenous thrombolysis, and analyze its influencing factors.Methods:From August 2020 to December 2021, convenience sampling was used to select 100 patients with cognitive impairment after intravenous thrombolysis for acute cerebral infarction admitted to the Department of Neurology of Shaoxing People's Hospital as the research object. The patients were followed up three months after intravenous thrombolysis. The Montreal Cognitive Assessment (MoCA) Scale and Self-made Cognitive Motor Training Compliance Scale and Exercise Training Compliance Scale were used to evaluate the cognitive function recovery and training compliance of the patients. Univariate analysis of variance and Logistic regression were used to analyze the influencing factors of cognitive function in patients with acute cerebral infarction after intravenous thrombolysis. A total of 100 questionnaires were distributed, 100 valid questionnaires were recovered with the recovery rate of 100%.Results:Three months after intravenous thrombolysis in patients with acute cerebral infarction, there were 85 patients with good cognitive function and 15 patients with abnormal cognitive function. Multivariate Logistic regression analysis showed that combined with hypertension, combined with abnormal glucose and lipid metabolism, National Institutes of Health Stroke Scale scores, thrombolysis time, infarct site, compliance with cognitive training and motor training were risk factors for cognitive function of patients with acute cerebral infarction after intravenous thrombolysis ( P<0.05) . Conclusions:Cognitive function of patients with acute cerebral infarction after intravenous thrombolysis is related to hypertension, abnormal glucose and lipid metabolism, NIHSS score, thrombolysis time, infarct location, and compliance cognitive with training, motor training. Ultra-early intravenous thrombolysis can protect cognitive function in patients with acute cerebral infarction. It is recommended to strengthen the prevention and control of the above risk factors and carry out early cognitive training and motor training to promote the early recovery of patients.

Objective:To explore whether working memory span training can expand working memory capacity.Methods:A randomized controlled trial design was adopted and a total of 60 healthy college students were recruited and randomly divided into training group ( n=30, receiving adaptive training of spatial breadth task) and control group ( n=30, receiving non-adaptive training of low difficulty spatial breadth task). The cognitive behavior and event-related potential (ERP) data of all subjects when completing the change awareness task were collected before and after training.The SPSS 22.0 statistical software was used for data analysis. The differences between the training group and the control group before and after training were compared by repeated measurement analysis of variance. Results:Repeated measurement ANOVA showed that there were significant time and group interactions at the levels of cognitive behavior(K score, F=5.352, P=0.025) and ERP (CDA, F=4.644, P=0.037) levels. Further post test found that compared with pre-training (pre-test), the K-score ((0.51±0.93), (1.61±1.07), F=26.81, P<0.001) and CDA ((-1.49±1.07)μV, (-2.03±0.94)μV, F=4.731, P=0.041) of the training group increased significantly after training (post-test), and there was no significant difference in K-score and CDA of the control group before and after training (boh P>0.05). Conclusion:Working memory span task can be used as an effective training paradigm to improve working memory capacity.